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INTRODUCTION. Glycogen storage disease type II, or Pompe disease, is a lysosomal disease with an autosomal recessive pattern of inheritance. Late-onset Pompe disease is a progressive metabolic myopathy caused by decreased activity of the enzyme acid alpha-glucosidase (GAA), which gives rise to reduced degradation and later accumulation of glycogen in the lysosomes and cell cytoplasm. CASE REPORT. A 16-year-old Venezuelan male, diagnosed with late-onset glycogen storage disease type II, or Pompe disease, based on the patient's clinical picture and the biochemical findings. The patient presented unmistakable signs of muscular atrophy in the upper and lower limbs, as well as positive Gowers' sign. Levels of creatinkinase in serum were high. His functional respiratory capacity was diminished. The quantification of the enzymatic activity of acid alpha-glucosidase on filter paper did not show any significant decrease in activity. A molecular genetic analysis revealed the existence of two homozygotic mutations in the gene GAA, c.547-67C>G and c.547-39T>G, both on exon 2 of chromosome 17. According to the human genome database and the review that was undertaken, the changes detected in this patient represent new mutations in the acid alpha-glucosidase gene, GAA. This claim is in agreement with the clinical features and biochemical changes found in the patient. CONCLUSION. A molecular genetic study is mandatory in patients suspected of having this disease.

Introduction: Landau-Kleffner syndrome is characterised by acquired aphasia and encephalographic alterations that may or may not be accompanied by epileptic seizures. AIM. To analyse the clinical and encephalographic features and response to treatment of 10 patients with Landau-Kleffner syndrome., Patients and Methods: We reviewed the patient records, encephalograms and treatment administered to patients catalogued as having Landau-Kleffner syndrome., Results: The mean age of the patients was 44 months. Of these cases, 60% presented epilepsy when the diagnosis was established and 70% were found to have epileptic status during slow-wave sleep in the encephalographic study. Results showed that 40% corresponded to variants of Landau-Kleffner syndrome. No cause of the disease could be established in any of the patients. In the neuroimaging study, only one patient displayed abnormalities in the magnetic resonance imaging of the brain. All the patients received adrenocorticotropic hormone (ACTH)-based treatment, at a dose of 1 IU/kg/day for one month, administered together with antiepileptic drugs such as valproic acid and clobazam. Convulsive seizures and epileptic status during slow-wave sleep disappeared in all the patients. In the patients without epileptic status, epileptic activity became less frequent, although it did not completely disappear. Aphasia improved considerably, which meant that all the patients were able to enroll in normal schools., Conclusions: We believe that early diagnosis, together with suitable and timely management of aphasic patients with encephalographic alterations that allow ACTH to be used at low doses, make it possible to offer an early education so as to provide maximum recovery from the disease.

Introduction: Alternating hemiplegia (AH) of childhood is a rare disease that gives rise to transient attacks of hemiplegia that may affect either side of the body indistinctly, or even both sides at the same time. Onset occurs before the age of 18 months and in some cases there are neonatal symptoms such as abnormal eye movements, especially nystagmus, and dystonic or tonic seizures. Attacks of hemiplegia, which disappear during sleep, begin before the age of one year. These symptoms can initially be taken for an epileptic disorder., Case Reports: We describe the study of two male patients whose clinical symptoms appeared at the age of 6 months, with tonic seizures, upward deviation of gaze, without loss of consciousness, which occurred with a recurrence rate of between one and two attacks a week or several times a day. They were initially treated with antiepileptic drugs (AED), although the complementary tests, including electroencephalogram (EEG), computerised axial tomography (TAC), magnetic resonance (MR) scans and metabolic tests, were all normal., Conclusions: Since, to date, no specific test has been confirmed for the disease, diagnosis is essentially clinical and by exclusion. Treatment is symptomatic using flunarizine. In one of our cases, administration of a single 10 mg/day dose this drug at night lowered the frequency of the attacks of hemiplegia. The possibility of treating a patient who is a carrier of an AH with AED makes early knowledge and identification of this disease necessary in order to be able to improve the patient's prognosis.

Introduction: Organic acidurias have long been known to cause neurological problems, such as convulsions, stupor, coma, and psychomotor and mental retardation. The organic acidurias include propionic aciduria, methylmalonic aciduria (MMA), isovaleric acidemia, lactic acidemia and glutaric acidemia type I. However, the association of MMA with electrical activity of the brain characterised by a hypsarrhythmic pattern, refractory convulsions and psychomotor retardation is very rare., Case Reports: Two patients, one male and one female, were seen to have psychomotor retardation, erratic attacks of myoclonic convulsions, hypsarrhythmic encephalographic pattern and an increase in the urinary excretion of methylmalonic acid, as shown by gas chromatography and mass spectrometry, all of which supported a diagnosis of MMA in both cases. In one patient, the brain MRI with gadolinium showed lesions compatible with brain atrophy. Protein restrictions, the administration of vitamin B12 and l carnitine re established the normal neurological state and reduced the urinary excretion of methylmalonic acid in one of them., Conclusions: To the best of our knowledge these are the first cases of MMA that have been seen accompanied by hypsarrhythmia. The rareness of this clinical presentation with the characteristics described above make us suspect that we are dealing with a new clinical syndrome.